• Toxicological Research
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• v.19 no.3
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• pp.205-210
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• 2003

The aim of this study was to estimate the influence of 37 bp insertion/deletion (I/O) poly-morphism of the low density lipoprotein receptor-related protein-associated protein 1 (LRPAP1) gene on anthropometrical or biochemical parameters in korean general population. To determine the frequency of the genotype, we analyzed 244 samples of Korean origin. The frequency of the I allele was 0.55 in men and 0.56 in women, which were significantly higher than the frequency (0.26) that was reported in Czech population of Caucasian origin. In addition, the I allele of this polymorphism was significantly associated with higher value of body mass index (BMI) in our subjects by ANOVA test (P<0.05), and this association was maintained after controlling for age and gender by ANCOVA test (P<0.05). Thus, our results suggest that the I/O polymorphism of the LRPAP1 gene may be useful as a genetic marker for obesity in Korean general population.

• 보존과학연구
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• s.25
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• pp.47-74
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• 2004

We investigated the nucleotide substitution and insertion polymorphism of the hypervariable region Ⅰ and Ⅱ in mt DNA by sequencing ancient DNA from 51 ancient bones and teeth excavated at Nuk-do and Yimdang-dong in Korea. It revealed 35 sequence types from the ancient Korean. Of these, different sequences were 34 sequences. There were 19 and 38 base substitutions in HVI and HVⅡ, respectively. Some substitutions were characteristic of East Asian populations as compared with data reported on Caucacianpopulations,16051, 16150, 16172, 16223 in region I and 73, 263 in region II were noted as polymorphic sites, respectively. These were distributed evenly along the control region, though the frequency of each site was variable. Nucleotide substitution rather than insertion and deletion was the prevalent pattern of variation. Insertion of cytosine between312 and 315 in region HVⅡ were detected up to 98% in 51 ancient bone samples. This sequence data represents a phylogenetic tree using NTI DNA Suite computer program. The phylogenetic tree showed that mt DNA sequences of Nuk-do bones were relative to west Siberian and Indonesian. The usefulness of mt DNA sequencing in ancient Korean population excavated atarchaeological sites is based on biological and historical evidence for origin and migration of ancient Korean.

• Tuberculosis and Respiratory Diseases
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• v.58 no.1
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• pp.25-30
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• 2005

Background : An insertion-deletion polymorphism of angiotensin converting enzyme (ACE) gene has been shown to be associated with enzyme activity levels of ACE. Reported results that have been mutually contradictory about asthmatic hypersensitiveness and occurrence according to ACE gene insertion (I)/deletion (D) polymorphism. Also, the involvement of the ACE genes as the genetic basis of bronchial asthma is currently controversy. We investigated whether there was any association between polymorphisms of the ACE genes and airway hyper-responsiveness in chronic obstructive pulmonary disease (COPD). Methods : A total of 100 patients with COPD were enrolled in this study. The ACE genotypes were determined in all subjects by polymerase chain reaction. Pulmonary function test including bronchodilator response (BDR), methacholine bronchial provocation test (MBPT) were done in those patients. Airway hyper-responsiveness include any findings of positive BDR or MBPT. Results : In COPD patients, the ACE genotype distribution did not differ significantly among groups of patients with severities of COPD, and with or without airway hyper-responsiveness. Conclusions : These results suggest that polymorphisms of the ACE gene may not be associated with airway hyper-responsiveness, development and severity of COPD.

• Biomedical Science Letters
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• v.18 no.4
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• pp.406-412
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• 2012

The polymorphism (insertion, I or deletion, D) of angiotensin converting enzyme (ACE) gene is designated as the presence of a 287 bp Alu repeat. The D/D homozygote carrier is associated with high ACE activity, and this high activity has been implicated with hypertension, coronary artery disease, or diabetic nephropathy. We studied the clinical candidate marker in ACE gene polymorphism using chemical and hematological analysis. The subjects are divided into normotensive and hypertensive groups and ACE genotype in the group was confirmed by PCR method. Chemical analysis was preceded with Hitachi7060, and hematological analysis was performed using Mythic 22. In 116 targeted people, 17 (38.64%) of 44 I/I genotype group are hypertension, 15 (34.09%) in 44 with D/I, but, D/D type in the 28 cases is 15 patients (53.57%) in hypertension. In hypertension group, biochemical analysis (triglyceride, and alkaline phosphatase) and hematological analysis (white blood cell, platelet) are showed high value in D/D genotype of ACE gene. The relationship between hypertension and ACE genotype is the same results as previously reported and we thought that the high laboratory value of white blood cell, platelet, triglycerides, and alkaline phosphatase are also indicator of hypertension in D/D type of ACE.

• Journal of Animal Reproduction and Biotechnology
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• v.35 no.2
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• pp.198-206
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• 2020

Food and agricultural production sector, especially livestock production is vital for Mongolia's economic and social development. Domestic sheep play key roles for Mongolians, providing food (meat, milk) and raw materials (wool, sheepskin), but genetic diversity, origin of sheep populations in Mongolia have not been well studied. Studies of population genetic diversity is important research field in conservation and restoration of animal breeds and genetic resources. Therefore, this study aimed to investigate genetic characteristics and estimate origin through the analysis of mitochondrial DNA control region D-loop and Cytochrome b of Mongolian indigenous sheep (Mongolian native, Orkhon and Altanbulag) and one Europe sheep (Suffolk). As a result of there were found, 220 SNPs (Single nucleotide polymorphism) in the D-loop region, 28 SNPs in the Cytochrome B region, furthermore, 77 Haplotypes. The nucleotide diversity was only found in D-loop region (n = 0.0184). Phylogenetic analysis showed that 3 (A, B, and C) of 5 haplogroups of sheep have been identified in our research. Haplogroup C was only found in Mongolian indigenous sheep. Haplogroup D and E were not observed. As a result of haplogroups, haplogroup A was dominant (n = 46 of 94 sheeps), followed by haplogroup B (n = 36) and haplogroup C (n = 12). Sequence analysis showed that T deletion, insertion and heteroplasmy in D-loop region occurred at a high rate in Mongolian indigenous sheep population (T insertion = 47, T deletion = 83). The heteroplasmy, which has never been found in Mongolian sheep, has been newly discovered in this study. As a result, the Mongolian sheep varieties, which mainly derived from Asia, were in hybridization with European sheep varieties.

• Animal cells and systems
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• v.7 no.3
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• pp.249-253
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• 2003

Abnormalities in fibrinolysis system is associated with risk of hypertension. In this report, the Alu repeat insertion/deletion (I/D) polymorphism of tissue plasminogen activator (t-PA) and the Hind III RFLP of plasminogen activator inhibitor-1 (PAI-1) genes were investigated in 115 normotensives and 83 patients with hypertension, and their association with anthropometrical data and plasma biochemical parameters were analyzed. There were no significant differences in the gene frequencies of the two candidate genes between normotensives and hypertensives, respectively. Our results indicate lack of associations between the two polymorph isms in t-PA and PAI-1 genes and risk of hypertension in the population under study. However, the Hind III RFLP of PAI-1 gene was significantly associated with plasma glucose level, suggesting its role in glucose metabolism. It needs to be tested whether this RFLP of PAI-1 gene is associated with insulin resistance syndrome or non-insulin dependent diabetes mellitus (NIDDM) in the Korean population.

• Korean Journal of Plant Taxonomy
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• v.52 no.3
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• pp.156-172
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• 2022

Campsis grandiflora (Thunb.) K. Schum is an ornamental species with various useful biological effects. The chloroplast genome of C. grandiflora isolated in Korea is 154,293 bp long (GC ratio: 38.1%) and has four subregions: 84,121 bp of large single-copy (36.2%) and 18,521 bp of small single-copy (30.0%) regions are separated by 24,332 bp of inverted repeat (42.9%) regions including 132 genes (87 protein-coding genes, eight rRNAs, and 37 tRNAs). One single-nucleotide polymorphism and five insertion and deletion (INDEL) regions (40-bp in total) were identified, indicating a low level of intraspecific variation in the chloroplast genome. All five INDEL regions were linked to the repetitive sequences. Seventy-two normal simple sequence repeats (SSRs) and 47 extended SSRs were identified to develop molecular markers. The phylogenetic trees of 29 representative Bignoniaceae chloroplast genomes indicate that the tribe-level phylogenic relationship is congruent with the findings of previous studies.

• Clinical and Experimental Pediatrics
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• v.45 no.7
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• pp.884-890
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• 2002

Purpose : Henoch-Schonlein purpura(HSP) nephritis has been reported to vary from 25 to 50% among HSP patients and is a common cause of chronic glomerulonephritis in children. In our study, we evaluated the distribution and the association of the Insertion/Deletion(I/D) polymorphism of angiotensin converting enzyme(ACE) gene with clinical manifestations, particularly proteinuria in children with HSP nephritis, compared with that in HSP. Methods : ACE gene polymorphism was determined in children with HSP nephritis(n=33) and HSP(n=28) who were diagnosed in Busan Paik hospital from January 1996 to June 2001. The I/D polymorphism of ACE gene was determined by PCR amplication of genomic DNA. Results : The ACE I/D genotype frequency was DD : 25%, ID : 50%, II : 25% in HSP and DD : 24 %, ID : 46%, II : 30% in HSP nephritis, there was no significant difference in the genotype and allele frequencies between two groups. When statistical analysis was done according to the presence of D allele, the amount of 24-hour urinary protein excretion and the incidence of moderate to heavy proteinuria(>$500mg/m^2/day$) at onset and last follow-up were higher in DD/ID genotype than in those in II genotype, but these differences were not statistically significant. Conclusion : We suggest a lack of association between I/D polymorphism of ACE gene and clinical manifestations in children with HSP nephritis. However, further follow-up studies based on a sufficient number of patients and long term follow up periods are necessary to confirm the role of I/D polymorphism of ACE gene in children with HSP nephritis.

• Journal of Life Science
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• v.33 no.12
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• pp.987-994
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• 2023

This study examined the associations between the genotypes of the galactose mutarotase (GALM) gene and carcass traits in the Hanwoo population of Jeju Island, South Korea. The GALM genotypes were determined by the 14-bp (5'-GGTCTAATGACCAG-3') insertion/deletion (InDel) polymorphisms of the 3'-untranslated region (UTR). All three genotypes (LL, LS, and SS) were found in the Hanwoo steer population. The association analysis showed significant associations between genotypes and several carcass traits, including traits related to intramuscular fat content, such as meat quality, marbling score, and backfat thickness (p<0.05). Animals harboring the SS genotype showed not only higher levels of intramuscular fat content but also lower levels of backfat thickness than animals harboring the LL and LS genotypes. On the other hand, no significant associations were found between the GALM genotypes and carcass weight, eye muscle area, meat color, or fat color (p>0.05). Deleting the 14-bp segment in the 3'-UTR resulted in the modification of the secondary structure of RNA and appeared to affect gene expression by interfering with the binding ability of GALM mRNA with RNA-binding proteins and microRNAs. These results suggest that the 14-bp InDel polymorphism in the 3'-UTR region of the GALM gene affects cattle growth traits and carcass quality through galactose metabolism-mediated fat accumulation in muscle and backfat tissues.

• Journal of the Korean Society of Food Culture
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• v.22 no.4
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• pp.404-413
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• 2007

This study was carried out to compare UCP2 polymorphism, dietary habits, and obesity index in normal and obese university students. The survey was carried out using self-questionnaires collected from the 126 normal and 60 obese university students. The results are summarized as follows. Breakfast was skipped in 43.7% of normal and 49.3% of obesity students and it appeared obese students eat faster than normal students. The percentage of weight control experience were 49.2 and 71.0 in the normal and obese students, respectively. Blood levels of lipid profiles(triglyceride, LDL cholesterol, and HDL cholesterol), hemoglobin, AST and ALT were anaylzed. In UCP2 genes, the frequency of deletion homozygote(DD) was 71.5%, heterozygote(DI) was 26.9% and insertion homozygote(II) was 1.6%. Plasma levels of triglyceride, total cholesterol, LDL cholesterol, and HDL cholesterol of normal students were 79.06, 172.25, 100.86 and 57.03 mg/dl, and those of obese students were 93.06, 173.22, 101.22 and 54.39 mg/dl, respectively. Blood parameters were in normal range in both group. Plasma triglyceride, total cholesterol and LDL cholesterol levels of obese students were higher than those of normal students. On the other hand, plasma HDL cholesterol levels of obese students were lower than those of normal students. Plasma levels of AST and ALT were in normal range in both group. However, AST and ALT levels of obese students were higher than that of normal students. Thus, it was recommended for them to have a nutritional education program to improve their dietary and living habits for obese students’health. Nutritional education program should also be organized practically and systematically.